FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term occipital horn syndrome ID (Ontology) DOID:0111272 (Human Disease)
Definition A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease.
Also Known As "EDS IX" ; "Ehlers-Danlos syndrome type 9" ; "Ehlers-Danlos syndrome type IX" (for all, see Synonyms field below)
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DO.org
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 occipital horn syndrome       1      1
 for disease ribbon | occipital horn syndrome       1       --
 model of | occipital horn syndrome       1       --
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
inherited metabolic disorder    |
 |__metal metabolism disorder___|
                                occipital horn syndrome  2 rec.
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Is a X-linked recessive disease
metal metabolism disorder
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Synonyms
  • "EDS IX" EXACT OMO:0003012
    "Ehlers-Danlos syndrome type 9" EXACT
    "Ehlers-Danlos syndrome type IX" EXACT
    "X-linked cutis laxa" EXACT
Secondary IDs
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GARD:4017
MESH:C537860
MIM:304150
ORDO:198
SNOMEDCT_US_2023_03_01:59399004
UMLS_CUI:C0268353